Citations for
1ATL1, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31, SPG33, SPG3A, SPG4, SPG41, SPG6, SPG8, SPG9
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.
Chin Med J (Engl) 121(5):430-4. 2008
2NIPA1, SPG6
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.
Beetz C, Schüle R, Klebe S, Klimpe S, Klopstock T, Lacour A, Otto S, Sperfeld AD, van de Warrenburg B, Schöls L, Deufel T.
J Neurol Sci 268(1-2):131-5. Epub 2008 Jan 14.PMID: 18191948 2008
3NIPA1, SPG6
NIPA1(SPG6), the Basis for Autosomal Dominant Form of Hereditary Spastic Paraplegia, Encodes a Functional Mg2+ Transporter.
Goytain A, Hines RM, El-Husseini A, Quamme GA.
J Biol Chem 282(11):8060-8. Epub 2006 Dec 13. 2007
4NIPA1, SPG6
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
Klebe S, Lacour A, Durr A, Stojkovic T, Depienne C, Forlani S, Poea-Guyon S, Vuillaume I, Sablonniere B, Vermersch P, Brice A, Stevanin G.
Neurogenetics 8(2):155-7. Epub 2007 Jan 5. No abstract available. PMID: 17205300 2007
5SPG6
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.
Chen S, Song C, Guo H, Xu P, Huang W, Zhou Y, Sun J, Li CX, Du Y, Li X, Liu Z, Geng D, Maxwell PH, Zhang C, Wang Y.
Hum Mutat 25(2):135-41. 2005
6ATL1, SPAST, SPG1, SPG2, SPG3A, SPG5A, SPG6
Molecular genetics of familial spastic paraplegia : a multitude of responsible genes.
Kobayashi H, et al.
J Neurol Sci 137 : 131-138. 1996